Incidental Mutation 'IGL02891:Kti12'
| ID |
363185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kti12
|
| Ensembl Gene |
ENSMUSG00000073775 |
| Gene Name |
KTI12 homolog, chromatin associated |
| Synonyms |
1110001A12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02891
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108705054-108706609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 108705730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 215
(S215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030296]
[ENSMUST00000102738]
[ENSMUST00000164855]
|
| AlphaFold |
Q9D1R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030296
|
| SMART Domains |
Protein: ENSMUSP00000030296
Gene: ENSMUSG00000028567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin_7
|
37 |
118 |
1.1e-19 |
PFAM |
|
Pfam:Thioredoxin
|
41 |
135 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102738
AA Change: S215A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099799
Gene: ENSMUSG00000073775
AA Change: S215A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KTI12
|
1 |
347 |
3.3e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164855
|
| SMART Domains |
Protein: ENSMUSP00000128780
Gene: ENSMUSG00000090551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,500,340 (GRCm39) |
S1284P |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,622,052 (GRCm39) |
V763A |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,628,396 (GRCm39) |
M256K |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,480,341 (GRCm39) |
V130D |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,073,048 (GRCm39) |
S125G |
probably benign |
Het |
| Clu |
T |
A |
14: 66,213,433 (GRCm39) |
F273Y |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,890,676 (GRCm39) |
D869G |
probably benign |
Het |
| Elapor1 |
C |
T |
3: 108,371,708 (GRCm39) |
R672Q |
probably benign |
Het |
| Emx1 |
T |
C |
6: 85,181,067 (GRCm39) |
|
probably benign |
Het |
| Ercc2 |
T |
G |
7: 19,127,211 (GRCm39) |
F316C |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,017,558 (GRCm39) |
L129P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,422 (GRCm39) |
N1940K |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,727,098 (GRCm39) |
|
probably benign |
Het |
| Ift70b |
C |
T |
2: 75,767,404 (GRCm39) |
V450M |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,502,544 (GRCm39) |
D879E |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,335,648 (GRCm39) |
L26F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,570 (GRCm39) |
N74S |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,835 (GRCm39) |
V246E |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,288 (GRCm39) |
V126A |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,114,334 (GRCm39) |
D20G |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,088 (GRCm39) |
Q923* |
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,599,942 (GRCm39) |
S333T |
possibly damaging |
Het |
| Skint10 |
T |
A |
4: 112,586,023 (GRCm39) |
I198F |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,926,038 (GRCm39) |
P647L |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,932,859 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,118,042 (GRCm39) |
F216L |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,392 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,437,166 (GRCm39) |
Q217K |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,598,952 (GRCm39) |
W212* |
probably null |
Het |
| Zfp687 |
G |
T |
3: 94,919,257 (GRCm39) |
P172T |
probably damaging |
Het |
|
| Other mutations in Kti12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02608:Kti12
|
APN |
4 |
108,705,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Kti12
|
APN |
4 |
108,705,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB002:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB003:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB003:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB004:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB004:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB006:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB006:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB012:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB012:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB013:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB013:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB014:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB014:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
BB016:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R0518:Kti12
|
UTSW |
4 |
108,705,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1681:Kti12
|
UTSW |
4 |
108,706,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Kti12
|
UTSW |
4 |
108,705,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Kti12
|
UTSW |
4 |
108,705,620 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6652:Kti12
|
UTSW |
4 |
108,705,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6774:Kti12
|
UTSW |
4 |
108,705,652 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7123:Kti12
|
UTSW |
4 |
108,705,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7858:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7858:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7859:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7914:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7914:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7915:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7915:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7917:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7917:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7918:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7918:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7925:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7925:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7926:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7926:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7927:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7927:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R7929:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
|
R8099:Kti12
|
UTSW |
4 |
108,705,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Kti12
|
UTSW |
4 |
108,705,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9567:Kti12
|
UTSW |
4 |
108,705,935 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-12-18 |
Incidental Mutation